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Whole exome sequencing of families with 1q21.1 microdeletion or microduplication.

Qiao Y, Badduke C, Tang F, Cowieson D, Martell S, Lewis SME, Pe├▒aherrera MS, Robinson WP, Volchuk A, Rajcan-Separovic E.

Am J Med Genet A. 2017 May 5. doi: 10.1002/ajmg.a.38247. [Epub ahead of print]


Consumption of antimicrobial manuka honey does not significantly perturb the microbiota in the hind gut of mice.

Rosendale D, Butts CA, de Guzman CE, Maddox IS, Martell S, McIntyre L, Skinner MA, Dinnan H, Ansell J.

PeerJ. 2016 Dec 20;4:e2787. doi: 10.7717/peerj.2787. eCollection 2016.


Exome sequencing identifies pathogenic variants of VPS13B in a patient with familial 16p11.2 duplication.

Dastan J, Chijiwa C, Tang F, Martell S, Qiao Y, Rajcan-Separovic E, Lewis ME.

BMC Med Genet. 2016 Nov 10;17(1):78.


Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis.

Bagheri H, Badduke C, Qiao Y, Colnaghi R, Abramowicz I, Alcantara D, Dunham C, Wen J, Wildin RS, Nowaczyk MJ, Eichmeyer J, Lehman A, Maranda B, Martell S, Shan X, Lewis SM, O'Driscoll M, Gregory-Evans CY, Rajcan-Separovic E.

JCI Insight. 2016 Mar 17;1(3):e85461.


Whole exome sequencing in recurrent early pregnancy loss.

Qiao Y, Wen J, Tang F, Martell S, Shomer N, Leung PC, Stephenson MD, Rajcan-Separovic E.

Mol Hum Reprod. 2016 May;22(5):364-72. doi: 10.1093/molehr/gaw008. Epub 2016 Jan 28.


Comparison of quantitative real-time polymerase chain reaction with NanoString® methodology using adipose and liver tissues from rats fed seaweed.

Bentley-Hewitt KL, Hedderley DI, Monro J, Martell S, Smith H, Mishra S.

N Biotechnol. 2016 May 25;33(3):380-6. doi: 10.1016/j.nbt.2016.01.002. Epub 2016 Jan 25.


A therapeutic skating intervention for children with autism spectrum disorder.

Casey AF, Quenneville-Himbeault G, Normore A, Davis H, Martell SG.

Pediatr Phys Ther. 2015 Summer;27(2):170-7. doi: 10.1097/PEP.0000000000000139.


Functional consequences of copy number variants in miscarriage.

Wen J, Hanna CW, Martell S, Leung PC, Lewis SM, Robinson WP, Stephenson MD, Rajcan-Separovic E.

Mol Cytogenet. 2015 Jan 31;8:6. doi: 10.1186/s13039-015-0109-8. eCollection 2015.


Analysis of the initiation of nuclear pore assembly by ectopically targeting nucleoporins to chromatin.

Schwartz M, Travesa A, Martell SW, Forbes DJ.

Nucleus. 2015;6(1):40-54. doi: 10.1080/19491034.2015.1004260.


First confirmed cases of Middle East respiratory syndrome coronavirus (MERS-CoV) infection in the United States, updated information on the epidemiology of MERS-CoV infection, and guidance for the public, clinicians, and public health authorities - May 2014.

Bialek SR, Allen D, Alvarado-Ramy F, Arthur R, Balajee A, Bell D, Best S, Blackmore C, Breakwell L, Cannons A, Brown C, Cetron M, Chea N, Chommanard C, Cohen N, Conover C, Crespo A, Creviston J, Curns AT, Dahl R, Dearth S, DeMaria A, Echols F, Erdman DD, Feikin D, Frias M, Gerber SI, Gulati R, Hale C, Haynes LM, Heberlein-Larson L, Holton K, Ijaz K, Kapoor M, Kohl K, Kuhar DT, Kumar AM, Kundich M, Lippold S, Liu L, Lovchik JC, Madoff L, Martell S, Matthews S, Moore J, Murray LR, Onofrey S, Pallansch MA, Pesik N, Pham H, Pillai S, Pontones P, Pringle K, Pritchard S, Rasmussen S, Richards S, Sandoval M, Schneider E, Schuchat A, Sheedy K, Sherin K, Swerdlow DL, Tappero JW, Vernon MO, Watkins S, Watson J; Centers for Disease Control and Prevention (CDC).

MMWR Morb Mortal Wkly Rep. 2014 May 16;63(19):431-6. Erratum in: MMWR Morb Mortal Wkly Rep. 2014 Jun 27;63(25):554.


Dietary flavonoids from modified apple reduce inflammation markers and modulate gut microbiota in mice.

Espley RV, Butts CA, Laing WA, Martell S, Smith H, McGhie TK, Zhang J, Paturi G, Hedderley D, Bovy A, Schouten HJ, Putterill J, Allan AC, Hellens RP.

J Nutr. 2014 Feb;144(2):146-54. doi: 10.3945/jn.113.182659. Epub 2013 Dec 18.


Variant ATRX syndrome with dysfunction of ATRX and MAGT1 genes.

Qiao Y, Mondal K, Trapani V, Wen J, Carpenter G, Wildin R, Price EM, Gibbons RJ, Eichmeyer J, Jiang R, DuPont B, Martell S, Lewis SM, Robinson WP, O'Driscoll M, Wolf FI, Zwick ME, Rajcan-Separovic E.

Hum Mutat. 2014 Jan;35(1):58-62.


Phenotypic and functional consequences of haploinsufficiency of genes from exocyst and retinoic acid pathway due to a recurrent microdeletion of 2p13.2.

Wen J, Lopes F, Soares G, Farrell SA, Nelson C, Qiao Y, Martell S, Badukke C, Bessa C, Ylstra B, Lewis S, Isoherranen N, Maciel P, Rajcan-Separovic E.

Orphanet J Rare Dis. 2013 Jul 10;8:100. doi: 10.1186/1750-1172-8-100.


Clinical application of 2.7M Cytogenetics array for CNV detection in subjects with idiopathic autism and/or intellectual disability.

Qiao Y, Tyson C, Hrynchak M, Lopez-Rangel E, Hildebrand J, Martell S, Fawcett C, Kasmara L, Calli K, Harvard C, Liu X, Holden JJ, Lewis SM, Rajcan-Separovic E.

Clin Genet. 2013 Feb;83(2):145-54. doi: 10.1111/j.1399-0004.2012.01860.x. Epub 2012 Apr 9.


Understanding the impact of 1q21.1 copy number variant.

Harvard C, Strong E, Mercier E, Colnaghi R, Alcantara D, Chow E, Martell S, Tyson C, Hrynchak M, McGillivray B, Hamilton S, Marles S, Mhanni A, Dawson AJ, Pavlidis P, Qiao Y, Holden JJ, Lewis SM, O'Driscoll M, Rajcan-Separovic E.

Orphanet J Rare Dis. 2011 Aug 8;6:54. doi: 10.1186/1750-1172-6-54.


The signal transfer from the receptor NpSRII to the transducer NpHtrII is not hampered by the D75N mutation.

Holterhues J, Bordignon E, Klose D, Rickert C, Klare JP, Martell S, Li L, Engelhard M, Steinhoff HJ.

Biophys J. 2011 May 4;100(9):2275-82. doi: 10.1016/j.bpj.2011.03.017.


Cecal and colonic responses in rats fed 5 or 30% corn oil diets containing either 7.5% broccoli dietary fiber or microcrystalline cellulose.

Paturi G, Butts C, Monro J, Nones K, Martell S, Butler R, Sutherland J.

J Agric Food Chem. 2010 May 26;58(10):6510-5. doi: 10.1021/jf100296m.


Complex formation and light activation in membrane-embedded sensory rhodopsin II as seen by solid-state NMR spectroscopy.

Etzkorn M, Seidel K, Li L, Martell S, Geyer M, Engelhard M, Baldus M.

Structure. 2010 Mar 10;18(3):293-300. doi: 10.1016/j.str.2010.01.011.


Single-molecule force spectroscopy measures structural changes induced by light activation and transducer binding in sensory rhodopsin II.

Oberbarnscheidt L, Janissen R, Martell S, Engelhard M, Oesterhelt F.

J Mol Biol. 2009 Dec 4;394(3):383-90. doi: 10.1016/j.jmb.2009.07.083. Epub 2009 Aug 3.


Characterization of intestinal inflammation and identification of related gene expression changes in mdr1a(-/-) mice.

Dommels YE, Butts CA, Zhu S, Davy M, Martell S, Hedderley D, Barnett MP, McNabb WC, Roy NC.

Genes Nutr. 2007 Nov;2(2):209-23. doi: 10.1007/s12263-007-0051-4. Epub 2007 Sep 27.

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